Mucopolysaccharidosis III, commonly referred to as Sanfilippo Syndrome, is a lysosomal
storage disorder. It is part of a larger grouping of mucopolysaccharidosis diseases, but is
distinguished by solely affecting the metabolism of heparan sulfates. Due to the decrease
in production or lack of the enzymes necessary for the breakdown of the heparan sulfates,
these glycosaminoglycans, or mucopolysaccharides, repeating chains of carbohydrates
commonly found attached to proteoglycans, are unable to degrade. Thus, the lysosomal
accumulation and urinary excretion lead to the onset and clinical onset of Sanfilippo
Syndrome. Characterized by severe central nervous system (CNS) degradation, onset
typically begins to manifest between the ages of 2 and 6 years. Patients are characterized
with progressive mental deterioration leading to severe dementia. Behavioral problems
are often present initially and are a tell-tale sign with hyperactive behaviors. Additional
symptoms include epilepsy, frequent ear, nose, and throat infections, sleeping problems,
and recurrent diarrhea.

Current work

At the Vannberg Lab, we are currently working on "Whole Genome Sequencing of a Mucopolysaccharidosis Patient". This project is a collaborative effort between Vannberg and Jordan lab
at Georgia Tech and University of Libre in Cali Columbia. We have carried out complete genome
sequencing of a Colombian individual to discern the genetic basis of suspected Sanfillippo
syndrome in an Afro-Colombian family. The work involved
finding and analyzing potentially deleterious regions of the genome that has an association
with this disease. These regions are typically variants that include single nucleotide
polymorphisms (SNP’s), structural variants (SV’s) and insertions/deletions (INDEL’s). We
are studying these variants in a few genes of our interest. These genes code for proteins
that are found to be involved in pathways found in diseased phenotype. Also, we are trying
to identify the change in the structure and functions of the proteins due to these variants to
better understand the disease.